Autosomal systemic lupus erythematosus
ORPHA:300345DiseaseAutosomal dominant, Autosomal recessiveChildhood
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| C1QA | complement C1q A chain | Major susceptibility factor in | gene with protein product | 120550 |
| C4A | complement C4A (Chido/Rodgers blood group) | Major susceptibility factor in | gene with protein product | 120810 |
| DNASE1L3 | deoxyribonuclease 1L3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602244 |
| C1R | complement C1r | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 613785 |
| DNASE1 | deoxyribonuclease 1 | Disease-causing germline mutation(s) in | gene with protein product | 125505 |
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | Worldwide | Family(ies) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)